Dilated cardiomyopathy and familial inquest

01 Dec 2010

A 42-year-old man was addressed to the department because of dyspnoea (class II NYHA) and a recent diagnosis of dilated cardiomyopathy (LV EDD 61 mm, LVEF 38%, IVS 9 mm on Echocardiography). Sinus rhythm was present on ECG, with incomplete LBBB, PR interval was 200 ms). Holter was characterized by 253 PVB/24h including one triplet, no conduction defect. After medical treatment including ACE inhibitor and betablocker, no significant PVB was observed (only few isolated PVB). Biology was unremarkable, including CK plasma level. Then an episode of near-fainting led to electrophysiological testing that demonstrated mild sinus dysfunction and mild nodal AV block. Evolution under medical treatment was satisfactory.

DCM was previously diagnosed in the father of the patient (diagnosis at 40 years of age, heart transplantation required at 52 years, non-cardiac death few days later). No cardiac examination was performed in the other members of the family (see the pedigree, Figure 1). Genetic testing was performed in the 42-year-old patient.

Fig.1: Pedigree of the family.

1/ Which cardiac examination do you recommend at that stage in the family members?

2/ Genetic testing identified a heterozygous mutation of the LMNA (lamin A/C) gene (p.Arg190Trp) in the propositus. Which additional management can you propose to the family members?